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  • Human SH2D1A wild-type allele is located within Xq25-q26 and is approximately 27 kb in length. This allele, which encodes SH2 domain protein 1A, plays role in activation, proliferation and differentiation of B and T cells, induces production of IFN gamma, and changes the functional profile of subsets of T cells. Mutations in this gene are associated with X-linked lymphoproliferative syndrome 1 (Duncan Disease).
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